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Diseases
Genes (533)
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ST3GAL3
Epileptic Encephalopathy, Early Infantile, 15
Mental Retardation, Autosomal Recessive 12
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 15
COMP
Pseudoachondroplasia
PAX6
Aniridia 3
KERA
Cornea Plana 2, Autosomal Recessive
SCNN1B
Liddle Syndrome 2
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
MKS1
Bardet-Biedl Syndrome 11
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
COL2A1
Pseudoachondroplasia
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
BBS10
Bardet-Biedl Syndrome 11
NPHP1
Bardet-Biedl Syndrome 11
Nephronophthisis 16
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SDCCAG8
Bardet-Biedl Syndrome 11
LZTFL1
Bardet-Biedl Syndrome 11